Search Results - "Honjo, R.S."

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum by Bertola, D.R., Hsia, G., Alvizi, L., Gardham, A., Wakeling, E.L., Yamamoto, G.L., Honjo, R.S., Oliveira, L.A.N., Di Francesco, R.C., Perez, B.A., Kim, C.A., Passos‐Bueno, M.R.

“…Richieri‐Costa‐Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal…”
Get full text

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings by Franco, J F, Soares, D C, Torres, L C, Leal, G N, Cunha, M T, Honjo, R S, Bertola, D R, Kim, C A

“…Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive multisystem lysosomal storage disorder, which is characterized by the deficiency of the enzyme…”
Get full text

Indicadores Socioemocionais do Espectro do Autismo em Pessoas com Síndrome de Williams by Teixeira, M.C.T.V., Baraldi, G.S., Emerich, D.R., Miklos, M.L.W., Silva, N.A., Marino, R.L.F., Kim, C.A., Honjo, R.S., Brunoni, D., Osório, A.A.C.

Get full text

Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity by Bertola, D.R., Antequera, R., Rodovalho, M.J., Honjo, R.S., Albano, L.M.J., Furquim, I.M., Oliveira, L.A., Kim, C.A.

Get full text

Evaluacion de habilidades intelectuales y visuoe-spaciales de ninos y adultos con Sindrome de Williams by Nunes, M.M, Honjo, R.S, Dutra, R.L, Amaral, V.S, Amaral, V.A.S, Oh, H.K, Bertola, D.R, Albano, L.M.J, Assumpcáo, F.B., Jr, Kim, C.A, Teixeira, M.C.T.V

“…El síndrome de Williams-Beuren (SWB), también conocido como síndrome de Williams, es un síndrome de deleción de genes contiguos de la región 7q.11.23. Se…”
Get full text